Varaico: Literature-Extracted Genetic Variants

Gene:CERS1
Variant:p.H183Q

CERS1

69 papers

RefSeq Summary

This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neuro...

Pfam Domains

TRAM_LAG1_CLN8aa 98–304UCSCTLC domain

Gene Aliases

HGNC Name

ceramide synthase 1

HGNC Previous Symbol

LASS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_021267.5
p.H183Q
c.549C>G
Surrounding Variants
7 papers
NM_021267.5
p.H183Q
c.549C>A
1 paper
NM_021267.5
p.H183D
c.547C>G
1 paper
NM_021267.5
p.H182D
c.544C>G
1 paper
NM_021267.5
p.S192F
c.575C>T
1 paper
NM_021267.5
p.S193A
c.577T>G
1 paper
NM_021267.5
p.R173R
c.519C>A
1 paper
NM_021267.5
p.I163V
c.487A>G
1 paper
NM_021267.5
p.S162F
c.485C>T
1 paper
NM_021267.5
p.T139A
c.415A>G
1 paper
NM_021267.5
p.Y198H
c.592T>C
1 paper
NM_021267.5
p.L204F
c.610C>T
1 paper
NM_021267.5
p.L208L
c.622C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."